ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)

gnomAD frequency: 0.00003  dbSNP: rs375210532
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202706 SCV001373829 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001664748 SCV001879635 uncertain significance not provided 2020-10-21 criteria provided, single submitter clinical testing
GeneDx RCV001664748 SCV002002742 uncertain significance not provided 2021-03-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002484087 SCV002790679 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-12-30 criteria provided, single submitter clinical testing

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